Knobloch syndrome – a rare collagenopathy, revealing peripheral avascular retina

Maitra, Puja; Shah, Parag K; Subramaniam, Prema; Das, Anindya; Narendran, Vivek

doi:10.1080/13816810.2023.2188226

Cited by 2 publications

(1 citation statement)

References 22 publications

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“…Collagen XVIII also contains 3 HS side chains and a highly glycosylated DUF 959 N-terminal domain of unknown function. Mutations in the COL18A1 chain lead to structural defects in the brain and associated tissues such as vitreoretinal degeneration, retinal detachment encephalocele, and bony occipital defects in Knobloch Syndrome (Caglayan et al, 2014;Irene Díez García-Prieto et al, 2022;Maitra et al, 2023). Collagen XVIII accumulates in defects caused by traumatic brain injury (Deininger et al, 2006;Mueller et al, 2007) and in senile plaques and amyloid-laden blood vessels in AD (van Horssen et al, 2002) (Figure 5).…”

Section: Type XVIII Collagenmentioning

confidence: 99%

CNS/PNS proteoglycans functionalize neuronal and astrocyte niche microenvironments optimizing cellular activity by preserving membrane polarization dynamics, ionic microenvironments, ion fluxes, neuronal activation, and network neurotransductive capacity

Melrose

2024

J of Neuroscience Research

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Central and peripheral nervous system (CNS/PNS) proteoglycans (PGs) have diverse functional roles, this study examined how these control cellular behavior and tissue function. The CNS/PNS extracellular matrix (ECM) is a dynamic, responsive, highly interactive, space‐filling, cell supportive, stabilizing structure maintaining tissue compartments, ionic microenvironments, and microgradients that regulate neuronal activity and maintain the neuron in an optimal ionic microenvironment. The CNS/PNS contains a high glycosaminoglycan content (60% hyaluronan, HA) and a diverse range of stabilizing PGs. Immobilization of HA in brain tissues by HA interactive hyalectan PGs preserves tissue hydration and neuronal activity, a paucity of HA in brain tissues results in a pro‐convulsant epileptic phenotype. Diverse CS, KS, and HSPGs stabilize the blood–brain barrier and neurovascular unit, provide smart gel neurotransmitter neuron vesicle storage and delivery, organize the neuromuscular junction basement membrane, and provide motor neuron synaptic plasticity, and photoreceptor and neuron synaptic functions. PG‐HA networks maintain ionic fluxes and microgradients and tissue compartments that contribute to membrane polarization dynamics essential to neuronal activation and neurotransduction. Hyalectans form neuroprotective perineuronal nets contributing to synaptic plasticity, memory, and cognitive learning. Sialoglycoprotein associated with cones and rods (SPACRCAN), an HA binding CSPG, stabilizes the inter‐photoreceptor ECM. HSPGs pikachurin and eyes shut stabilize the photoreceptor synapse aiding in phototransduction and neurotransduction with retinal bipolar neurons crucial to visual acuity. This is achieved through Laminin G motifs in pikachurin, eyes shut, and neurexins that interact with the dystroglycan–cytoskeleton–ECM‐stabilizing synaptic interconnections, neuronal interactive specificity, and co‐ordination of regulatory action potentials in neural networks.

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Section: Type XVIII Collagenmentioning

confidence: 99%

CNS/PNS proteoglycans functionalize neuronal and astrocyte niche microenvironments optimizing cellular activity by preserving membrane polarization dynamics, ionic microenvironments, ion fluxes, neuronal activation, and network neurotransductive capacity

Melrose

2024

J of Neuroscience Research

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Exploring Knobloch syndrome: A case series of two Indian families and a review of literature

Bhatt,

Bhende,

Shakeel

et al. 2024

Indian Journal of Ophthalmology - Case Reports

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This case series describes the clinical features and genetic testing results of four patients from two families affected by Knobloch syndrome (KS). KS is an autosomal recessive collagenopathy characterized by vitreoretinal degeneration, high myopia, retinal detachment, and occipital encephalocele. In addition, a myriad of other ophthalmic and systemic features may be present in the affected individuals. Mutations in the COL18A1 gene are primarily implicated in the pathogenesis of the disease. The phenotypical differences seen in our genetically-proven patients show the clinical heterogeneity of this condition. Diagnosis of KS type-1 was confirmed by genetic analysis in all affected patients. Surgical intervention was done to salvage vision in three patients. This case series highlights the importance of meticulous clinical examination and diagnosis of this rare condition. Genetic counseling and testing are important for suspected patients and for guiding patients on the visual prognosis of the disease.

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Knobloch syndrome – a rare collagenopathy, revealing peripheral avascular retina

Cited by 2 publications

References 22 publications

CNS/PNS proteoglycans functionalize neuronal and astrocyte niche microenvironments optimizing cellular activity by preserving membrane polarization dynamics, ionic microenvironments, ion fluxes, neuronal activation, and network neurotransductive capacity

CNS/PNS proteoglycans functionalize neuronal and astrocyte niche microenvironments optimizing cellular activity by preserving membrane polarization dynamics, ionic microenvironments, ion fluxes, neuronal activation, and network neurotransductive capacity

Exploring Knobloch syndrome: A case series of two Indian families and a review of literature

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